Browse by ["viewname_eprint_publisher" not defined]

B

Brock, Stefanie and Laquerriere, Annie and Marguet, Florent and Myers, Scott J. and Hongjie, Yuan and Baralle, Diana and Vanderhasselt, Tim and Stouffs, Katrien and Keymolen, Kathelijn and Kim, Sukhan and Allen, James and Shaulsky, Gil and Chelly, Jamel and Marcorelle, Pascale and Aziza, Jacqueline and Villard, Laurent and Sacaze, Elise and de Wit, Marie C. Y. and Wilke, Martina and Mancini, Grazia Maria Simonetta and Hehr, Ute and Lim, Derek and Mansour, Sahar and Traynelis, Stephen F. and Beneteau, Claire and Denis-Musquer, Marie and Jansen, Anna C. and Fry, Andrew E. and Bahi-Buisson, Nadia (2023) Overlapping cortical malformations in patients with pathogenic variants in GRIN1 and GRIN2B. JOURNAL OF MEDICAL GENETICS, 60 (2). pp. 183-192. ISSN 0022-2593, 1468-6244

Brock, Stefanie and Vanderhasselt, Tim and Vermaning, Sietske and Keymolen, Kathelijn and Regal, Luc and Romaniello, Romina and Wieczorek, Dagmar and Storm, Tim Matthias and Schaeferhoff, Karin and Hehr, Ute and Kuechler, Alma and Kraegeloh-Mann, Ingeborg and Haack, Tobias B. and Kasteleijn, Esmee and Schot, Rachel and Mancini, Grazia Maria Simonetta and Webster, Richard and Mohammad, Shekeeb and Leventer, Richard J. and Mirzaa, Ghayda and Dobyns, William B. and Bahi-Buisson, Nadia and Meuwissen, Marije and Jansen, Anna C. and Stouffs, Katrien (2021) Defining the phenotypical spectrum associated with variants in TUBB2A. JOURNAL OF MEDICAL GENETICS, 58 (1). pp. 33-40. ISSN 0022-2593, 1468-6244

D

Di Donato, Nataliya and Neuhann, Teresa and Kahlert, Anne-Karin and Klink, Barbara and Hackmann, Karl and Neuhann, Irmingard and Novotna, Barbora and Schallner, Jens and Krause, Claudia and Glass, Ian A. and Parnell, Shawn E. and Benet-Pages, Anna and Nissen, Anke M. and Berger, Wolfgang and Altmueller, Janine and Thiele, Holger and Weber, Bernhard H. F. and Schrock, Evelin and Dobyns, William B. and Bier, Andrea and Rump, Andreas (2016) Mutations in EXOSC2 are associated with a novel syndrome characterised by retinitis pigmentosa, progressive hearing loss, premature ageing, short stature, mild intellectual disability and distinctive gestalt. JOURNAL OF MEDICAL GENETICS, 53 (6). pp. 419-425. ISSN 0022-2593, 1468-6244

F

Fisher, Sheila A. and Rivera, Andrea and Fritsche, Lars G. and Babadjanova, Gulja and Petrov, Sergey and Weber, Bernhard H. F. (2007) Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate. BRITISH JOURNAL OF OPHTHALMOLOGY, 91 (5). pp. 576-578. ISSN 0007-1161, 1468-2079

K

Kast, Karin and Rhiem, Kerstin and Wappenschmidt, Barbara and Hahnen, Eric and Hauke, Jan and Bluemcke, Britta and Zarghooni, Verena and Herold, Natalie and Ditsch, Nina and Kiechle, Marion and Braun, Michael and Fischer, Christine and Dikow, Nicola and Schott, Sarah and Rahner, Nils and Niederacher, Dieter and Fehm, Tanja and Gehrig, Andrea and Mueller-Reible, Clemens and Arnold, Norbert and Maass, Nicolai and Borck, Guntram and de Gregorio, Nikolaus and Scholz, Caroline and Auber, Bernd and Varon-Manteeva, Raymonda and Speiser, Dorothee and Horvath, Judit and Lichey, Nadine and Wimberger, Pauline and Stark, Sylvia and Faust, Ulrike and Weber, Bernhard H. F. and Emons, Gunter and Zachariae, Silke and Meindl, Alfons and Schmutzler, Rita K. and Engel, Christoph (2016) Prevalence of BRCA1/2 germline mutations in 21 401 families with breast and ovarian cancer. JOURNAL OF MEDICAL GENETICS, 53 (7). pp. 465-471. ISSN 0022-2593, 1468-6244

L

Lacbawan, F. and Solomon, B. D. and Roessler, E. and El-Jaick, K. and Domene, S. and Velez, J. I. and Zhou, N. and Hadley, D. and Balog, J. Z. and Long, R. and Fryer, A. and Smith, W. and Omar, S. and McLean, S. D. and Clarkson, K. and Lichty, A. and Clegg, N. J. and Delgado, M. R. and Levey, E. and Stashinko, E. and Potocki, L. and VanAllen, M. I. and Clayton-Smith, J. and Donnai, D. and Bianchi, D. W. and Juliusson, P. B. and Njolstad, P. R. and Brunner, H. G. and Carey, J. C. and Hehr, U. and Muesebeck, J. and Wieacker, P. F. and Postra, A. and Hennekam, R. C. M. and van den Boogaard, M-J H. and van Haeringen, A. and Paulussen, A. and Herbergs, J. and Schrander-Stumpel, C. T. R. M. and Janecke, A. R. and Chitayat, D. and Hahn, J. and McDonald-McGinn, D. M. and Zackai, E. H. and Dobyns, W. B. and Muenke, M. (2009) Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function. JOURNAL OF MEDICAL GENETICS, 46 (6). pp. 389-398. ISSN 0022-2593, 1468-6244

S

Schuele, R. and Schlipf, N. and Synofzik, M. and Klebe, S. and Klimpe, S. and Hehr, U. and Winner, B. and Lindig, T. and Dotzer, A. and Riess, O. and Winkler, J. and Schoels, Ludger and Bauer, P. (2009) Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 80 (12). pp. 1402-1404. ISSN 0022-3050, 1468-330X